Research Highlights 2016

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Cancer Genetics of prostate cancer Family history is one of the few known risk factors for developing prostate cancer. This knowledge has led to the creation of the Tasmanian Familial Prostate Cancer Resource, a collection of blood and pathology samples from more than 50 Tasmanian families where prostate cancer is seen in multiple men across several generations. In 2016, we selected 10 families from this resource to identify rare genetic risk variants, those that occur in fewer than 2% of the general population. While these variants contribute to disease in just a small number of families, they are thought to increase a man’s risk by a large amount. We performed whole-genome sequencing in five families and have identified several rare variants that may be contributing to disease in these families and the wider Tasmanian population. We also checked these rare variants in a Seattle (US) familial prostate cancer resource and found that some of them may contribute to disease in these families too. The ultimate aim of our research is to identify rare variants that can be screened in Tasmanian men, especially those with a family history of prostate cancer. Variant carriers can then be tested for prostate cancer more frequently, as catching and treating the cancer early results in a higher chance of cure. (British Journal of Cancer, Human Molecular Genetics)

Inherited eye diseases Glaucoma We have identified new mutations in the MYOC gene that are important in glaucoma and have shown that genetic testing for this gene in families leads to early diagnosis and prevents vision loss. We identified a genetic mutation in patients with open-angle glaucoma and showed that a well-known glaucoma gene shows differential effects in males and females. As part of a very large international collaboration, we identified five new genes involved in angle closure glaucoma. In collaboration with researchers in the US, we identified a new gene for primary congenital glaucoma, which causes blindness in young children. This type of glaucoma was thought to mainly happen when a child inherited two bad copies of a gene (one from each parent), but this study showed that this is not always the case and that for patients with mutations in the TEK gene, one bad copy is enough to cause disease. Another paper published showed that there is overlap in genetic risk factors for glaucoma and agerelated macular degeneration. This has implications for predicting who is at risk of getting the diseases and also for the way we approach treatment in the future. (Experimental Eye Research, BMC Medical Genetics, Ophthalmology, Molecular Genetics & Genomic Medicine, Investigative Ophthalmology & Visual Science, Nature Genetics, Journal of Clinical Investigation, Scientific Reports) Age-related macular degeneration (AMD) We were part of the world’s largest ever genetic study of AMD, the most common cause of irreversible blindness in our community. Australian-based contributed the largest clinic-based cohorts to this collaboration, which identified 20 new genes that contribute to AMD. We also showed that

MENZIES INSTITUTE FOR MEDICAL RESEARCH BUILDING A HEALTHIER COMMUNITY

Research Highlights 2016

Associate Professors Kathryn Burdon and Alex Hewitt work with large international research collaborations that are making regular breakthroughs in eye disease genetics.

the dry and wet forms of AMD, although clinically distinct, are very similar at a genetic level. More work remains to be completed to understand what determines who will get wet or dry AMD and why. (Nature Genetics)

Diabetic Retinopathy New work built on several other papers from previous years and showed that a genetic variant in a microRNA gene is associated with diabetic eye and kidney disease, providing insight into why people often get both complications. (Acta Diabetologica, Diabetes and Vascular Disease Research) Paediatric (or congenital) Cataract We have a large project relating to the genetics of paediatric cataract, which is an important cause of blindness in children. A paper published in 2016 looked at the mechanism of a gene called EPHA2 and showed that it acts through several different pathways to cause cataract, dependent on the mutation that the patient has. Another paper expanded our understanding of the spectrum of mutations in a gene called CRYAA in paediatric cataract and showed that one mutation can cause multiple types of cataract. (Molecular Vision, BMC Research Notes)

Devil Facial Tumour Disease The Tasmanian devil immunology team has recently demonstrated that immune checkpoint molecules that exist in humans are also present in devils. This may play a role in the ability of the Tasmania Devil Facial Tumour to evade the devil’s immune system. The identification of PD-1 molecule in the Tasmanian devil is a substantial advance in marsupial immunology as surprisingly little is known about the potential for cancer immunotherapies in the field of veterinary medicine. This paper is the first to explore the relevance of key immune checkpoints in marsupials. The team also provided the first evidence that some wild Tasmanian devils are capable of recovering from DFTD. (Frontiers in Immunology, Biology Letters)

Would you like to know more? If you would like more information about our current research projects at the Menzies Institute for Medical Research: www.menzies.utas.edu.au Phone: +61 (0)3 6226 7700 Email: enquiries@menzies.utas.edu.au www.menzies.utas.edu.au www.facebook.com/MenziesResearch @ResearchMenzies www.linkedin.com/company/menzies-institute-formedical-research If you would like information on how you can donate to medical research at Menzies, please contact the Institute Advancement Manager on +61 (0)3 6226 4236 or email menzies.advancement@utas.edu.au. ABN 30 764 374 782 – University of Tasmania

Cover image: Dr Catherine Blizzard is the senior author on research published in 2016 which provided new insight into why the motor system fails in motor neurone disease. Photograph by Peter Mathew

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